List of variants reported as pathogenic for Tay-Sachs disease by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.672+30T>G	rs117160567	0.01494
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	rs387906309	0.00046
NM_000520.6(HEXA):c.1073+1G>A	rs76173977	0.00021
NM_000520.6(HEXA):c.459+5G>A	rs762060470	0.00009
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)	rs121907956	0.00004
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)	rs121907953	0.00002
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)	rs121907966	0.00001
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)	rs786204585	0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)	rs786204721	0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)	rs121907972	0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)	rs121907957	0.00001
NM_000520.6(HEXA):c.805+1G>C	rs121907980	0.00001
NC_000015.10:g.72647900_72648958del
NM_000520.6(HEXA):c.110dup (p.Tyr37Ter)
NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro)	rs1057519464
NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro)	rs370266293
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)	rs762374961
NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg)	rs1057519467
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter)	rs1057519468
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)	rs773446161
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys)	rs748190164
NM_000520.6(HEXA):c.426del (p.Phe142fs)	rs1057519458
NM_000520.6(HEXA):c.459+4A>C	rs1057519459
NM_000520.6(HEXA):c.524A>C (p.Asp175Ala)	rs1057519460
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)	rs150675340
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)	rs121907954
NM_000520.6(HEXA):c.898_905del (p.Phe300fs)	rs1057519463
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn)	rs772180415
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)	rs772180415

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